Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV000415138 | SCV000492622 | likely pathogenic | Abdominal pain; Anxiety; Elevated urinary delta-aminolevulinic acid; Acute episodes of neuropathic symptoms | 2016-01-21 | no assertion criteria provided | clinical testing |